Varaico: Literature-Extracted Genetic Variants

Gene:LORICRIN
Variant:p.S229fs

LORICRIN

160 papers

RefSeq Summary

This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome...

Pfam Domains

Loricrinaa 1–312UCSCMajor keratinocyte cell envelope protein

Gene Aliases

HGNC Name

loricrin cornified envelope precursor protein

HGNC Previous Symbol

LOR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000427.3
p.S229fs
c.685_686fs
Surrounding Variants
1 paper
NM_000427.3
p.S229fs
c.685_686fs
3 papers
NM_000427.3
p.G226_G227insFs
c.678_679insG
1 paper
NM_000427.3
p.G226insFs
c.676_677insC
1 paper
NM_000427.3
p.Y225fs
c.673_674fs
1 paper
NM_000427.3
p.Q222fs
c.664_665fs
8 papers
NM_000427.3
p.P221insFs
c.662_663insT
1 paper
NM_000427.3
p.G237R
c.709G>A
1 paper
NM_000427.3
p.G237R
c.709G>C
18 papers
NM_000427.3
p.G237insFs
c.709_710insC
1 paper
NM_000427.3
p.Q222insFs
c.664_665insC
1 paper
NM_000427.3
p.S238_G239insG
c.712_716ins3
2 papers
NM_000427.3
p.A220_P221delFs
c.660_661delGC
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